|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
GeneticVariation |
CLINVAR |
Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia.
|
21517826 |
2011 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
GeneticVariation |
CLINVAR |
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
|
21044901 |
2011 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
CausalMutation |
CLINVAR |
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.
|
20876674 |
2011 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
GeneticVariation |
CLINVAR |
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
|
21344540 |
2011 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
GeneticVariation |
CLINVAR |
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
|
21642631 |
2011 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
CausalMutation |
CLINVAR |
Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia.
|
21517826 |
2011 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
CausalMutation |
CLINVAR |
BBS mutational analysis: a strategic approach.
|
21463199 |
2011 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
CausalMutation |
CLINVAR |
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
|
21044901 |
2011 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
GeneticVariation |
CLINVAR |
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.
|
21157496 |
2011 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
CausalMutation |
CLINVAR |
Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.
|
21209035 |
2011 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
CausalMutation |
CLINVAR |
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
|
21642631 |
2011 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
CausalMutation |
CLINVAR |
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.
|
21157496 |
2011 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
CausalMutation |
CLINVAR |
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
|
21344540 |
2011 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
GeneticVariation |
CLINVAR |
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
|
21052717 |
2011 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
GeneticVariation |
UNIPROT |
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
|
21344540 |
2011 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
CausalMutation |
CLINVAR |
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
|
21052717 |
2011 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
GeneticVariation |
CLINVAR |
Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.
|
21209035 |
2011 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
GeneticVariation |
UNIPROT |
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
|
20120035 |
2010 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
GeneticVariation |
CLINVAR |
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
|
20472660 |
2010 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
CausalMutation |
CLINVAR |
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
|
20120035 |
2010 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
CausalMutation |
CLINVAR |
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
|
20080638 |
2010 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
CausalMutation |
CLINVAR |
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
|
20498079 |
2010 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
CausalMutation |
CLINVAR |
BBS10 mutations are common in 'Meckel'-type cystic kidneys.
|
20805367 |
2010 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
CausalMutation |
CLINVAR |
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
|
20177705 |
2010 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
BARDET-BIEDL SYNDROME 10
|
0.900 |
GeneticVariation |
UNIPROT |
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
|
20080638 |
2010 |